Global Variome shared LOVD

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Phenotype #0000155435 Individual ID 00207645 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination 08y (8 years) Diagnosis/Definite - Age/Diagnosis 00y07m Phenotype/Onset - Phenotype details Severly affected; Cause of consultation: Seizures (HP:0001250), psychomotor delay (HP:0001263), vomiting (HP:0002013), diarrhea (HP:0002014); Additional symptoms: Macrocephaly (HP:0000256), hypotonia (HP:0001252), dystonia (HP:0001276); Neuroimaging: Typical (= temporal hypoplasia, dilated external CSF spaces) Protein findings: GA(urine) & 3-OH-GA(urine): Strongly raised; glutarylcarnitine (blood): Elevated Biochem - Enzyme/Activity Not determined Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-11-26 17:55:47 +01:00 (CET) Date last edited N/A

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